Two-year-old has only 15 days of medicines left

Baby Aakriti showing improvement after regularly taking her doses

The parents of two-year-old Aakriti Singh diagnosed with Spinal Muscular Atrophy - SMA type-1, are worried about her next dose of medicine. They were confident of getting central government financial aid from the Rs 924 crore, assured in the budget for rare diseases, as directed by the Delhi High Court. But, the parents are shocked to learn that the Supreme Court recently put a stay on the Delhi HC order, putting SMA type-1 patients and parents in limbo. With no cure for SMA, the medicines are imported and the prices are unaffordable, which puts patients suffering from SMA at the risk of early death.

Wonder drug

Her mother Kirti said, "Risdiplam, a medication for definitive therapy manufactured by a multinational pharma company, is one of the treatments for SMA. This medication is life-saving and must be given lifelong to reverse or stabilise the disease's manifestations and to prolong event-free survival. Aakriti requires one bottle every 30 days. The approximate cost of each bottle, including GST, is Rs 6,20,000, and the annual cost is nearly Rs 75,00,000."

An earlier pic of baby Aakriti when she was diagnosed with SMA

Significant improvement

The improvements observed through Risdiplam are significant. Aakriti has achieved milestones such as sitting without support, increased weight-bearing in her legs, and improved knee strength. She can also scribble and recite poems like other children her age, and she has shown no respiratory or swallowing problems.

The fear

When asked what happens after the medicine is finished, an emotional mother said, "All her current milestones may regress, which is not good for her. Without medication she will be more prone to lung infections, which could be life-threatening. As per the MNC pharma company scheme, if we buy two bottles they give us three bottles without any cost. So technically for Rs 12 lakh, we get five bottles, but this scheme is at the discretion of the MNC company."

Access to treatment tough

"In India, approximately 4,000 children are born with Spinal Muscular Atrophy (SMA) every year. This genetic disorder, leads to severe muscle weakness, impacting essential functions like movement, swallowing, and even breathing," said Alpana Sharma, co-founder, director of patient advocacy, CureSMA Foundation India, the largest parent-led patient advocacy organisation floated by SMA children's parents.

SMA treatment in India currently faces significant hurdles. Among the three globally available treatments - gene therapy Zolgensma, Spinraza (Nusinersen), and Evrysdi (Risdiplam) - only Evrysdi is approved for use in the country. "It is important to note that SMA patients are running against time. The life-saving medicines can not only arrest disease progression but also preserve functionalities in SMA patients. We humbly request the government to give a new lease of life to our dying children by ensuring that all SMA patients get access to life-saving medicine at the earliest," Alpana said.

"We are still awaiting a response from the government and are hopeful of receiving National Rare Disease funds as per the law. Given the exorbitant cost of the medication, it is challenging for an average family to afford this treatment. However, does this mean denying the right to life to a little girl with so much potential and a future ahead?" Kirti concluded.

What is SMA?

Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. There's no cure for SMA, but certain therapies and medications can help manage symptoms.